Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764510C= , CM000674.2:g.57764510C= | GRCh38 |
| NC_000012.11:g.58158293C= , CM000674.1:g.58158293C= | GRCh37 |
| NC_000012.10:g.56444560C= | NCBI36 |
| NG_007076.1:g.7684G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1085G= | ENSP00000518840.1:p.Arg362= | |
| ENST00000713545.1:c.*9G= | ENSP00000518841.1:n.*9G= | |
| ENST00000228606.9:c.1004G= MANE Select | ENSP00000228606.4:p.Arg335= | |
| ENST00000228606.8:c.1004G= | ENSP00000228606.4:p.Arg335= | |
| ENST00000546567.5:c.299G= | ENSP00000449472.1:p.Arg100= | |
| ENST00000547344.5:n.1143G= | ||
| NM_000785.3:c.1004G= | NP_000776.1:p.Arg335= | |
| NM_000785.4:c.1004G= MANE Select | NP_000776.1:p.Arg335= |